MFS
MCID: MRF001
MIFTS: 92

Marfan Syndrome (MFS) malady

Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases, Nephrological diseases categories

Summaries for Marfan Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Marfan Syndrome, also known as marfan's syndrome, is related to aortic aneurysm and peritonitis, and has symptoms including cleft palate without cleft lip/submucosal cleft palate/bifid uvula, endocardium anomalies/fibroelastosis/endocarditis and aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid. An important gene associated with Marfan Syndrome is FBN1 (fibrillin 1), and among its related pathways are Endometrial cancer and Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer. The compounds procollagen and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Genetics Home Reference:21 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:42 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). last updated: 2/25/2011

Wikipedia:63 Marfan syndrome (also called Marfan\'s syndrome) is a genetic disorder caused by the misfolding of the... more...

Description from OMIM:46 154700,610380

GeneReviews summary for marfan

Aliases & Classifications for Marfan Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age
marfan syndrome type 1:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

marfan syndrome 8 9 63 19 42 21 46 10 44 48 33 60
marfan's syndrome 8 20 22 21
arachnodactyly 63 44 60
mfs 63 21 48
marfan syndrome type 1 42 48
marfanoid hypermobility syndrome 60
contractural arachnodactyly 42
maple syrup urine disease 60
mfs1 48


External Ids:

Disease Ontology8 DOID:14323
MeSH34 D008382
NCIt39 C34807
ICD9CM27 759.82
MESH via Orphanet35 D008382
ICD10 via Orphanet26 Q87.4
SNOMED-CT via Orphanet57 19346006
UMLS via Orphanet61 C0024796
ICD1025 Q87.4

Related Diseases for Marfan Syndrome

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 381)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm31.1FBN1, TGFBR2, TGFBR1
2peritonitis30.9COL3A1
3aortic disease30.7FBN1
4congenital contractural arachnodactyly30.6FBN2
5thoracic aortic aneurysm30.6FBN1, ELN, TGFBR2
6dissecting aortic aneurysm30.5ELN
7mitral valve prolapse30.5FBN1, FBN2, AGTR1
8galactosemia30.5LOX, F9, PKD1, CBS
9loeys-dietz syndrome30.4COL3A1, FBN1, TGFBR2, TGFBR1
10pneumothorax30.4COL3A1
11lens subluxation30.4FBN1
12glaucoma30.3ELN, FBN1
13ehlers-danlos syndrome30.3COL1A2, COL3A1, FBN1, DCN, CD36, ELN
14hypertension30.2AGTR1
15polycystic kidney disease30.2PKD1
16vascular disease30.1CBS, ELN
17ehlers-danlos syndrome type iv30.1COL3A1, ELN
18pseudoxanthoma elasticum30.1FBN1, ELN
19cutis laxa29.9LOX, BMP6, FBN1, ELN
20connective tissue disease29.9FBN1
21arteriosclerosis29.9ELN
22hepatitis29.9F9
23aortic valve stenosis29.9ELN
24homocystinuria29.9CBS, FBN1
25obesity29.9CBS
26retinal detachment29.9CBS
27acute myocardial infarction29.9CBS, AGTR1
28ischemia29.9TGFBR1, MMP14, CBS
29osteogenesis imperfecta29.9COL1A2, COL3A1, DCN, CD36
30abdominal aortic aneurysm29.9FBN1, DCN, MMP14, ELN
31collagen disease29.9CD36, ELN
32hyperhomocysteinemia29.9F9, FBN1, CBS, ELN
33focal segmental glomerulosclerosis29.9COL1A2, BMP6, DCN, AGTR1, CD36
34myocardial infarction29.9COL3A1, F9, DCN, AGTR1, CBS
35coronary artery disease29.9COL3A1, F9, FBN1, AGTR1, CBS
36aneurysm disease29.8LOX, COL3A1, FBN1, FBN2, PKD1, MMP14
37atherosclerosis29.8LOX, BMP6, FBN1, DCN, AGTR1, CBS
38maple syrup urine disease11.7
39alpha chain disease11.2
40maple syrup urine disease type 211.0
41brain disease11.0
42phenylketonuria10.9
43liver disease10.8
44maple syrup urine disease type 1a10.7
45maple syrup urine disease type 1b10.7
46hypermobility syndrome10.7
47adult syndrome10.7
48hair disease10.6
49ophthalmoplegia10.6
50neurologic diseases10.6

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Clinical Features for Marfan Syndrome

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

154700,610380

Clinical synopsis from OMIM:

154700

Symptoms:

48 (show all 48)
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • thoracic/chest pain
  • inguinal/inguinoscrotal/crural hernia
  • kyphosis
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • aortic dissection
  • heart/cardiac failure
  • arterial rupture
  • meningocele
  • hyperactivity/attention deficit
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • sprain/twisted joint
  • autosomal dominant inheritance
  • retinal detachment
  • lens dislocation/luxation/subluxation/ectopia lentis
  • visual loss/blindness/amblyopia
  • dental malocclusion
  • flat cheek bones/malar hypoplasia
  • narrow face
  • asthenia/fatigue/weakness
  • marfanoid morphotype
  • tall stature/gigantism/growth acceleration
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hypotonia
  • aortic root dilatation/dilation/aneurysm
  • striae
  • flat foot
  • long hand/arachnodactyly
  • myopia
  • high vaulted/narrow palate
  • flat cornea
  • glaucoma
  • micrognathia/retrognathia/micrognathism/retrognathism
  • dolichocephaly/scaphocephaly
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • hyperextensible joints/articular hyperlaxity
  • articular/joint pain/arthralgia
  • sleep and vigilance disorders
  • dural ectasia/
  • arterial aneurism (excluding aorta)
  • coxa profunda/acetabular protrusion
  • scoliosis
  • pectus excavatum
  • long limbs/dolichostenomelia

Drugs & Therapeutics for Marfan Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Marfan Syndrome

Drug clinical trials:

Search ClinicalTrials for Marfan Syndrome

Search NIH Clinical Center for Marfan Syndrome

Search CenterWatch for Marfan Syndrome

Genetic Tests for Marfan Syndrome

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome20 FBN1
2 Marfan's Syndrome22

Anatomical Context for Marfan Syndrome

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32MalaCards
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MalaCards organs/tissues related to Marfan Syndrome:

32
Heart, Bone, Eye, Lung, Skin, Testes, Smooth muscle, Kidney, Endothelial, Colon, Spleen, Thyroid, Placenta

Animal Models for Marfan Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Marfan Syndrome:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.8COL1A2, FBN2, DCHS1, PKD1, CBS, NOV
2MP:00053799.8CBS, DCN, FBN1
3MP:00053759.7FBN1, PKD1, CD36, MMP14, NOV, TGFBR2
4MP:00053829.7FBN1, DCN, PKD1, CBS, MMP14, NOV
5MP:00107719.7LOX, COL3A1, FBN1, DCN, PKD1, CBS
6MP:00053709.6COL3A1, F9, PKD1, CBS, CD36, NOV
7MP:00053809.5DCHS1, PKD1, CBS, MMP14, TGFBR2, TGFBR1
8MP:00053889.4DCHS1, FBN2, COL3A1, LOX, DCN, PKD1
9MP:00053679.4FBN1, DCHS1, DCN, AGTR1, PKD1, CBS
10MP:00053699.4LOX, COL1A2, COL3A1, FBN1, FBN2, DCN
11MP:00053819.3COL3A1, DCHS1, DCN, PKD1, CD36, MMP14
12MP:00053869.3FBN2, FBN1, COL1A2, LOX, DCN, CBS
13MP:00053979.3F9, FBN1, DCN, PKD1, CBS, CD36
14MP:00053849.2DCN, FBN2, FBN1, COL1A2, PKD1, CBS
15MP:00053879.2F9, FBN1, DCN, AGTR1, PKD1, CBS
16MP:00053909.1COL1A2, BMP6, FBN1, FBN2, DCHS1, DCN
17MP:00053768.8AGTR1, DCN, FBN1, F9, COL3A1, LOX
18MP:00053858.7TGFBR1, LOX, COL1A2, F9, FBN1, FBN2
19MP:00053788.6DCHS1, FBN2, FBN1, BMP6, COL3A1, COL1A2
20MP:00107688.4DCHS1, FBN2, FBN1, F9, COL3A1, COL1A2

Publications for Marfan Syndrome

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Sources:
50PubMed
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Articles related to Marfan Syndrome:

(show top 50)    (show all 739)
idTitleAuthorsYear
1
Pediatric Patients with Marfan Syndrome: Frequency of Dural Ectasia and its Correlation with Common Cardiovascular Manifestations. (24043612)
2014
2
First report of the genetic background of Marfan syndrome in two Polish patients. (24162367)
2013
3
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. (23871676)
2013
4
A rare case of Marfan syndrome and concomitant alpha-1 antitrypsin deficiency. (24025392)
2013
5
Cardiovascular magnetic resonance in Marfan syndrome. (23587220)
2013
6
Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for marfan syndrome. (24265020)
2013
7
Marfan syndrome and symptomatic sacral cyst: report of two cases. (23941798)
2013
8
Echocardiographic methods, quality review, and measurement accuracy in a randomized multicenter clinical trial of Marfan syndrome. (23582510)
2013
9
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma. (22034023)
2012
10
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome? (23147988)
2012
11
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome. (22300218)
2012
12
Spinal deformity correction in Marfan syndrome versus adolescent idiopathic scoliosis: learning from the differences. (22426454)
2012
13
Corneal curvature, pachymetry, and endothelial cell density in Marfan syndrome. (21726424)
2012
14
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. (21907952)
2011
15
The Marfan syndrome - features, natural history and treatment options - our experiences. (21617273)
2011
16
Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-up. (22000778)
2011
17
Renovascular hypertension in a child with Marfan syndrome. (20538548)
2010
18
Delayed presentation of Morgagni hernia in a patient with Marfan syndrome. (20158638)
2010
19
Retreatment of a patient with Marfan syndrome and severe root resorption. (20122440)
2010
20
Marfan syndrome-an orthodontic perspective. (19216608)
2009
21
On ten-year epidemiological review of in-hospital patients with Marfan syndrome. (19875019)
2009
22
Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. (19725129)
2009
23
Pulmonary venous obstruction in a patient with Marfan syndrome: Rare presentation of an expanding dissecting descending thoracic aortic aneurysm with annuloaortic ectasia. (19380009)
2009
24
Two-stage total cardioaortic replacement for end-stage heart and aortic disease in Marfan syndrome: case report and review of the literature. (19716050)
2009
25
Marfan syndrome masked by Down syndrome? (19949477)
2009
26
Hybrid endovascular repair of an aneurysmal chronic type B dissection in a patient with Marfan syndrome with an aberrant right subclavian artery. (19088130)
2009
27
Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis. (19308590)
2008
28
Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome. (18762608)
2008
29
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (17663468)
2007
30
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. (17627385)
2007
31
Combined surgery for the treatment of bilateral subclavian artery aneurysm in Marfan syndrome. (17210405)
2007
32
Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. (17641224)
2007
33
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. (16601194)
2006
34
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. (15704038)
2005
35
Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. (15666366)
2005
36
Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. (15670230)
2005
37
Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. (15776436)
2005
38
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. (12598898)
2003
39
Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. (10739800)
2000
40
Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. (10779844)
2000
41
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. (10721679)
2000
42
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. (9837823)
1998
43
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. (9401003)
1997
44
Renovascular hypertension in Marfan syndrome. (9260256)
1997
45
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. (8653794)
1996
46
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. (7778680)
1995
47
From fluorescence to the gene: the skin in the Marfan syndrome. (7963686)
1994
48
Marfan Syndrome (20301510)
1993
49
Marfan syndrome with congenital contractures. (132202)
1975
50
Congenital contractural arachnodactyly. A heritable disorder of connective tissue distinct from Marfan syndrome. (4759368)
1973

Genetic Variations for Marfan Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Marfan Syndrome:

62 (show all 224)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Asn1131TyrVAR_002313rs137854473
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Cys2489ArgVAR_002343
64FBN1p.Cys2511ArgVAR_002344
65FBN1p.His2623ProVAR_002345
66FBN1p.Gly2627ArgVAR_002346
67FBN1p.Arg2680CysVAR_002347
68FBN1p.Arg2726TrpVAR_002348rs61746008
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Cys628LysVAR_023866
151FBN1p.Tyr635CysVAR_023868
152FBN1p.Arg636IleVAR_023869
153FBN1p.Cys781TyrVAR_023870
154FBN1p.Cys832TyrVAR_023871
155FBN1p.Cys890GlyVAR_023872
156FBN1p.Gly1058AspVAR_023873
157FBN1p.Asp1113ValVAR_023874
158FBN1p.Cys1153SerVAR_023875
159FBN1p.Tyr1219CysVAR_023877
160FBN1p.Tyr1261AspVAR_023878
161FBN1p.Cys1278SerVAR_023879
162FBN1p.Cys1284GlyVAR_023880
163FBN1p.Cys1333SerVAR_023881
164FBN1p.Cys1402ArgVAR_023882
165FBN1p.Pro1424SerVAR_023883
166FBN1p.Gly1475GluVAR_023884
167FBN1p.Gly1475SerVAR_023885
168FBN1p.Cys1564PheVAR_023886
169FBN1p.Met1576ThrVAR_023887
170FBN1p.Cys1631GlyVAR_023888
171FBN1p.Cys1663TyrVAR_023889
172FBN1p.Cys1791ArgVAR_023890
173FBN1p.Cys1806TyrVAR_023891
174FBN1p.Cys1876TyrVAR_023892rs112728248
175FBN1p.Thr1887IleVAR_023893
176FBN1p.Cys1895ArgVAR_023894
177FBN1p.Cys1900TyrVAR_023895
178FBN1p.Cys1928GlyVAR_023896
179FBN1p.Cys1928TyrVAR_023897
180FBN1p.Cys2038TyrVAR_023898rs363804
181FBN1p.Cys2085ArgVAR_023899
182FBN1p.Ala2160ProVAR_023900
183FBN1p.Cys2221PheVAR_023901
184FBN1p.Cys2251ArgVAR_023902rs112836174
185FBN1p.Ala2385ThrVAR_023903
186FBN1p.Cys2500ArgVAR_023904
187FBN1p.Cys2500TyrVAR_023905
188FBN1p.Cys2535TrpVAR_023906rs113544411
189FBN1p.Gly2536ArgVAR_023907
190FBN1p.Glu2570LysVAR_023908
191FBN1p.Cys2571ArgVAR_023909
192FBN1p.Cys2592SerVAR_023910
193FBN1p.Cys2605ArgVAR_023911
194FBN1p.Cys2605TyrVAR_023912
195FBN1p.Tyr2629CysVAR_023914
196FBN1p.Cys2663SerVAR_023915
197FBN1p.Cys1068GlyVAR_064503
198FBN1p.Cys80GlyVAR_065981
199FBN1p.Cys499TyrVAR_065982
200FBN1p.Cys611ArgVAR_065983
201FBN1p.Cys617GlyVAR_065984
202FBN1p.Cys685TyrVAR_065985
203FBN1p.Cys790TyrVAR_065986
204FBN1p.Cys811TyrVAR_065987
205FBN1p.Cys853SerVAR_065988
206FBN1p.Cys926TyrVAR_065989
207FBN1p.Pro1090SerVAR_065990
208FBN1p.Gly1185AspVAR_065991
209FBN1p.Cys1284TyrVAR_065992
210FBN1p.Cys1350PheVAR_065993
211FBN1p.Thr1401AlaVAR_065994
212FBN1p.Cys1431TrpVAR_065995rs112375043
213FBN1p.Cys1431TyrVAR_065996
214FBN1p.Asp1487AlaVAR_065998
215FBN1p.Asn1489LysVAR_065999
216FBN1p.Gly1838CysVAR_066000
217FBN1p.Cys1934SerVAR_066001
218FBN1p.Glu1976GlyVAR_066002
219FBN1p.Cys1984ArgVAR_066003
220FBN1p.Asp2166AsnVAR_066004
221FBN1p.Ile2185ThrVAR_066005
222FBN1p.Asp2247GlyVAR_066006
223FBN1p.Cys2442SerVAR_066008
224FBN1p.Cys2646ArgVAR_066010

Expression for genes affiliated with Marfan Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

About this section
Sources:
29KEGG, 53Reactome, 51QIAGEN, 59Tocris Bioscience, 37NCBI BioSystems Database, 55SinoBiological, 49PharmGKB, 12EMD Millipore
See all sources

Pathways related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.2TGFBR1, TGFBR2
2
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10.2TGFBR1, TGFBR2
3
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10.2TGFBR1, TGFBR2
4
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10.2TGFBR1, TGFBR2
5
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10.2TGFBR1, TGFBR2
610.2LOX, COL1A2
710.1DCN, TGFBR2, TGFBR1
8
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10.1ELN, TGFBR2, TGFBR1
910.1ELN, COL3A1, COL1A2
1010.1CD36, COL3A1, COL1A2
1110.1COL1A2, COL3A1, CD36
1210.1TGFBR1, TGFBR2, BMP6
13
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10.0COL1A2, COL3A1, MMP14
14
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10.0COL3A1, FBN1, DCN, CD36
159.9BMP6, DCN, TGFBR2, TGFBR1
16
Cell adhesion ECM remodeling
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9.9COL1A2, COL3A1, MMP14, ELN
17
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9.8COL1A2, COL3A1, FBN1, FBN2, CD36
18
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9.6LOX, MFAP5, FBN1, FBN2, FBLN2, ELN
19
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9.6COL1A2, COL3A1, BMP6, FBN1, FBN2, ELN
20
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9.4COL1A2, COL3A1, BMP6, FBN1, FBN2, ELN
21
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9.0MMP14, LOX, COL1A2, COL3A1, F9, MFAP5

Compounds for genes affiliated with Marfan Syndrome

About this section
Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Marfan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1procollagen4410.8COL1A2
2cycloheximide4410.8ELN
3estrogen4410.6F9, ELN
4pentosidine4410.6ELN, LOX
5desmosine4410.5ELN, FBN1, LOX
6glutamate4410.5FBN1, AGTR1, PKD1
7matrigel4410.5LOX, DCN, TGFBR1
8cacl24410.4ELN, FBN1, F9
9cyanogen bromide4410.3COL1A2, F9, CD36, ELN
10keratan sulfate4410.3ELN, CD36, DCN
11glucose4410.3LOX, AGTR1, TGFBR2, TGFBR1
12h2o24410.3LOX, F9, CD36, ELN
13cyclosporin a44 28 5912.3COL3A1, F9, DCN, TGFBR2
14taad4410.3TGFBR2, FBN1
15bleomycin44 1111.2LOX, BMP6, DCN, ELN, TGFBR2
16silicone4410.2F9, CD36, ELN
17alginate4410.2F9, DCN, CD36, MMP14, ELN
18chondroitin sulfate44 2411.2BMP6, FBN1, DCN, CD36, ELN
19pyridinoline4410.2LOX, CD36, ELN
20dermatan sulfate4410.2F9, BMP6, DCN, CD36, ELN
21hyaluronic acid44 2411.2BMP6, FBN1, DCN, CD36, ELN
22glycosaminoglycan4410.1LOX, BMP6, DCN, CD36, ELN
23losartan44 49 28 1113.1ELN, CD36, AGTR1, BMP6
24hydroxyproline44 11 2412.1LOX, BMP6, FBN1, DCN, CD36, ELN
25chloramphenicol44 2 1112.1COL1A2, F9, DCN, MMP14, ELN
26deoxypyridinoline4410.1ELN, CD36, LOX
27sodium dodecylsulfate4410.0BMP6, FBN1, DCN, ELN
28paraffin4410.0LOX, DCN, CD36, MMP14, ELN, TGFBR1
29lysine4410.0LOX, F9, FBN1, DCN, AGTR1, ELN
30aspartate4410.0COL1A2, COL3A1, BMP6, DCN, ELN
31ly2940024410.0COL1A2, BMP6, CD36, MMP14, TGFBR2, TGFBR1
32genistein44 28 59 2 11 2415.0DCN, AGTR1, CD36, MMP14, ELN, TGFBR1
33ribonucleic acid449.9COL1A2, COL3A1, BMP6, DCN, MMP14, TGFBR2
34dexamethasone44 49 28 1112.9LOX, F9, BMP6, DCN, MMP14, TGFBR2
35vitamin d449.9COL1A2, BMP6, FBN1, AGTR1, CD36, ELN
36fibrinogen449.9F9, FBLN2, AGTR1, CBS, MMP14, ELN
37homocysteine44 2410.8LOX, F9, FBN1, CBS
38oligonucleotide449.8COL1A2, BMP6, DCN, CBS, MMP14, TGFBR2
39thymidine44 2410.8LOX, COL1A2, COL3A1, F9, BMP6, MMP14
40creatinine449.8F9, BMP6, DCN, AGTR1, CD36, ELN
41retinoic acid44 2410.8LOX, BMP6, FBN1, DCN, CD36, ELN
42serine449.7COL1A2, F9, FBN1, AGTR1, PKD1, CBS
43tgf beta1449.7TGFBR1, BMP6, FBN1, DCN, AGTR1, CD36
44tyrosine449.7LOX, COL1A2, F9, FBN1, AGTR1, PKD1
45heparin44 28 11 2412.6F9, BMP6, FBN1, FBLN2, DCN, CD36
46vegf449.6LOX, BMP6, DCN, AGTR1, CD36, MMP14
47hydrocortisone44 2 59 1112.6ELN, CD36, BMP6, F9
48alanine449.5F9, BMP6, FBN1, DCN, AGTR1, PKD1
49cysteine449.1FBN2, FBN1, F9, COL1A2, LOX, DCN
50calcium44 49 11 2412.0COL1A2, F9, FBN1, FBN2, FBLN2, DCHS1

GO Terms for genes affiliated with Marfan Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Marfan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:07002210.2TGFBR1, TGFBR2
2microfibrilGO:00152710.1MFAP5, FBN1, FBN2
3Golgi lumenGO:00579610.0MMP14, DCN, F9
4proteinaceous extracellular matrixGO:0055789.8FBN1, FBN2, FBLN2, ELN
5extracellular matrixGO:0310129.6NOV, COL1A2, COL3A1, FBN1, FBLN2, DCN
6extracellular spaceGO:0056159.4LOX, COL1A2, COL3A1, BMP6, FBN1, DCN
7extracellular regionGO:0055769.1LOX, COL1A2, COL3A1, F9, MFAP5, FBN1

Biological processes related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:03558310.5FBN2, FBN1
2response to cholesterolGO:07072310.4TGFBR1, TGFBR2
3digestive tract developmentGO:04856510.4TGFBR2, PKD1, COL3A1
4positive regulation of reactive oxygen species metabolic processGO:200037910.3AGTR1, CD36, TGFBR2
5peptidyl-serine phosphorylationGO:01810510.3PKD1, TGFBR2, TGFBR1
6response to mechanical stimulusGO:00961210.3TGFBR2, MMP14, DCN
7collagen fibril organizationGO:03019910.3TGFBR1, COL3A1, COL1A2, LOX
8blood vessel developmentGO:00156810.3LOX, COL1A2, COL3A1, TGFBR2
9transforming growth factor beta receptor signaling pathwayGO:00717910.2COL1A2, COL3A1, TGFBR2, TGFBR1
10wound healingGO:04206010.2LOX, COL3A1, DCN, TGFBR2, TGFBR1
11cartilage developmentGO:05121610.2BMP6, PKD1, TGFBR2
12positive regulation of macrophage derived foam cell differentiationGO:01074410.2CD36, AGTR1
13heart developmentGO:00750710.1COL3A1, FBN1, PKD1, TGFBR2, TGFBR1
14collagen catabolic processGO:03057410.1MMP14, COL3A1, COL1A2
15skeletal system developmentGO:00150110.1TGFBR1, FBN1, BMP6, COL3A1, COL1A2
16kidney developmentGO:00182210.1BMP6, DCN, AGTR1, PKD1, TGFBR1
17extracellular matrix disassemblyGO:02261710.0COL1A2, COL3A1, MMP14
18extracellular fibril organizationGO:04320610.0MFAP5, COL3A1
19pathway-restricted SMAD protein phosphorylationGO:0603899.9TGFBR1, TGFBR2
20extracellular matrix organizationGO:0301989.4ELN, LOX, COL1A2, COL3A1, MFAP5, FBN1

Molecular functions related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00502410.2TGFBR1, TGFBR2
2transforming growth factor beta bindingGO:05043110.2TGFBR1, TGFBR2, CD36
3transmembrane receptor protein serine/threonine kinase activityGO:00467510.1TGFBR1, TGFBR2
4SMAD bindingGO:04633210.1COL1A2, COL3A1, TGFBR2, TGFBR1
5extracellular matrix bindingGO:05084010.1FBLN2, DCN, ELN
6platelet-derived growth factor bindingGO:0484079.9COL3A1, COL1A2
7extracellular matrix structural constituentGO:0052019.7ELN, FBLN2, FBN2, FBN1, MFAP5, COL3A1
8calcium ion bindingGO:0055099.5F9, FBN1, FBN2, FBLN2, DCHS1, MMP14

Products for genes affiliated with Marfan Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marfan Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet